Homo sapiens Gene: MYO6
Summary
InnateDB Gene IDBG-93156.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYO6
Gene Name myosin VI
Synonyms DFNA22; DFNB37
Species Homo sapiens
Ensembl Gene ENSG00000196586
Encoded Proteins
myosin VI
myosin VI
myosin VI
myosin VI
myosin VI
myosin VI
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a protein involved intracellular vesicle and organelle transport, especially in the hair cell of the inner ear. Mutations in this gene have been found in patients with non-syndromic autosomal dominant and recessive hearing loss. [provided by RefSeq, Jul 2008]
This gene encodes a reverse-direction motor protein that moves toward the minus end of actin filaments and plays a role in intracellular vesicle and organelle transport. The protein consists of a motor domain containing an ATP- and an actin-binding site and a globular tail which interacts with other proteins. This protein maintains the structural integrity of inner ear hair cells and mutations in this gene cause non-syndromic autosomal dominant and recessive hearing loss. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:75749192-75919537
Strand Forward strand
Band q14.1
Transcripts
ENST00000369985 ENSP00000359002
ENST00000369981 ENSP00000358998
ENST00000369977 ENSP00000358994
ENST00000369975 ENSP00000358992
ENST00000430435 ENSP00000399406
ENST00000462633
ENST00000615563 ENSP00000478013
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 48 [view]
Protein-Protein 48 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003774 motor activity
GO:0003779 actin binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0005524 ATP binding
GO:0043531 ADP binding
GO:0051015 actin filament binding
GO:0060001 minus-end directed microfilament motor activity
Biological Process
GO:0006605 protein targeting
GO:0006886 intracellular protein transport
GO:0006897 endocytosis
GO:0007268 synaptic transmission
GO:0007416 synapse assembly
GO:0007605 sensory perception of sound
GO:0007626 locomotory behavior
GO:0008152 metabolic process
GO:0014047 glutamate secretion
GO:0016358 dendrite development
GO:0030048 actin filament-based movement
GO:0030330 DNA damage response, signal transduction by p53 class mediator
GO:0042472 inner ear morphogenesis
GO:0042491 auditory receptor cell differentiation
GO:0042493 response to drug
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048167 regulation of synaptic plasticity
GO:0048839 inner ear development
GO:0051046 regulation of secretion
GO:0061024 membrane organization
GO:0071257 cellular response to electrical stimulus
Cellular Component
GO:0001726 ruffle
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005902 microvillus
GO:0005905 coated pit
GO:0005938 cell cortex
GO:0012506 vesicle membrane
GO:0016020 membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0016459 myosin complex
GO:0016461 unconventional myosin complex
GO:0016591 DNA-directed RNA polymerase II, holoenzyme
GO:0030139 endocytic vesicle
GO:0030424 axon
GO:0030665 clathrin-coated vesicle membrane
GO:0031941 filamentous actin
GO:0031965 nuclear membrane
GO:0032587 ruffle membrane
GO:0043025 neuronal cell body
GO:0043231 intracellular membrane-bounded organelle
GO:0043234 protein complex
GO:0045177 apical part of cell
GO:0045334 clathrin-coated endocytic vesicle
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
EGFR1 pathway
REACTOME
Trafficking of AMPA receptors pathway
Gap junction degradation pathway
Neuronal System pathway
Gap junction trafficking pathway
Transmission across Chemical Synapses pathway
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell pathway
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity pathway
Gap junction trafficking and regulation pathway
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Stabilization and expansion of the E-cadherin adherens junction
Cross-References
SwissProt
TrEMBL Q14784
UniProt Splice Variant
Entrez Gene 4646
UniGene
RefSeq NM_001300899 NM_004999 XM_005248719 XM_005248726
HUGO HGNC:7605
OMIM 600970
CCDS CCDS75481 CCDS34487
HPRD
IMGT
EMBL L29145
GenPept AAA20908
RNA Seq Atlas 4646